Linked Data
ClinVar Variation Id:
1978169
ClinVar RCV Id:
RCV002774989
dbSNP Id:
rs1379116232
gnomAD v2:
18-77440174-C-G
gnomAD v3:
18-79680174-C-G
gnomAD v4:
18-79680174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.79680174C>G , CM000680.2:g.79680174C>G | GRCh38 |
| NC_000018.9:g.77440174C>G , CM000680.1:g.77440174C>G | GRCh37 |
| NC_000018.8:g.75541162C>G | NCBI36 |
| NG_007988.1:g.5374C>G , LRG_236:g.5374C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613122.5:c.227C>G MANE Select | ENSP00000484525.2:p.Pro76Arg | |
| ENST00000075430.11:c.227C>G | ENSP00000075430.7:p.Pro76Arg | |
| ENST00000591598.5:c.23C>G | ENSP00000465119.1:p.Pro8Arg | |
| ENST00000613122.4:c.227C>G | ENSP00000484525.1:p.Pro76Arg | |
| NM_004715.4:c.227C>G , LRG_236t1:c.227C>G | NP_004706.3:p.Pro76Arg | |
| NM_048368.3:c.227C>G | NP_430255.2:p.Pro76Arg | |
| XM_005266782.2:c.227C>G | XP_005266839.1:p.Pro76Arg | |
| XM_011526261.1:c.227C>G | XP_011524563.1:p.Pro76Arg | |
| NM_001318511.1:c.227C>G | NP_001305440.1:p.Pro76Arg | |
| NM_001318511.2:c.227C>G | NP_001305440.1:p.Pro76Arg | |
| NM_004715.5:c.227C>G MANE Select | NP_004706.3:p.Pro76Arg | |
| NM_048368.4:c.227C>G | NP_430255.2:p.Pro76Arg |